Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999433844178 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM070930)
  • known disease mutation: rs21296 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:58067416C>GN/A show variant in all transcripts   IGV
HGNC symbol FLNB
Ensembl transcript ID ENST00000429972
Genbank transcript ID NM_001164318
UniProt peptide O75369
alteration type single base exchange
alteration region CDS
DNA changes c.700C>G
cDNA.865C>G
g.73290C>G
AA changes L234V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 234
frameshift no
known variant Reference ID: rs80356507
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs21296 (pathogenic for Larsen syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070930)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5711
3.5541
(flanking)5.1931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased73284wt: 0.30 / mu: 0.98wt: TTATGACTTACCTGT
mu: TTATGACTTACGTGT		 ATGA|ctta
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      234PDVDEHSVMTYLSQFPKAKLKPGA
mutated  all conserved    234PDVDEHSVMTYVSQFPKA
Ptroglodytes  all identical  ENSPTRG00000015054  234PDVDEHSVMTYLSQFPKA
Mmulatta  all identical  ENSMMUG00000000706  234PDVDEHSVMTYLSQFPKA
Fcatus  no alignment  ENSFCAG00000006518  n/a
Mmusculus  all identical  ENSMUSG00000025278  234PDVDEHSVMTYLSQFPKA
Ggallus  all identical  ENSGALG00000005678  137PDVDEHSVMTYLSQFPKAKLKPG
Trubripes  all identical  ENSTRUG00000005042  235PSVDEQSVMTYLSQFPK
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008663  234PNVDEHSVMTYLSQFPKA
protein features
start (aa)end (aa)featuredetails 
1239DOMAINActin-binding.lost
139239DOMAINCH 2.lost
227234HELIXlost
236239HELIXmight get lost (downstream of altered splice site)
249347REPEATFilamin 1.might get lost (downstream of altered splice site)
349446REPEATFilamin 2.might get lost (downstream of altered splice site)
447543REPEATFilamin 3.might get lost (downstream of altered splice site)
519519MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
544636REPEATFilamin 4.might get lost (downstream of altered splice site)
640736REPEATFilamin 5.might get lost (downstream of altered splice site)
658658MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
681681MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
737839REPEATFilamin 6.might get lost (downstream of altered splice site)
816816CONFLICTA -> T (in Ref. 7; CAE46040).might get lost (downstream of altered splice site)
840938REPEATFilamin 7.might get lost (downstream of altered splice site)
886886MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
924924CONFLICTY -> H (in Ref. 7; CAE46040).might get lost (downstream of altered splice site)
9391034REPEATFilamin 8.might get lost (downstream of altered splice site)
983983MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10281028MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10351127REPEATFilamin 9.might get lost (downstream of altered splice site)
10401042HELIXmight get lost (downstream of altered splice site)
10441047STRANDmight get lost (downstream of altered splice site)
10481051HELIXmight get lost (downstream of altered splice site)
10521054STRANDmight get lost (downstream of altered splice site)
10591064STRANDmight get lost (downstream of altered splice site)
10661068TURNmight get lost (downstream of altered splice site)
10731077STRANDmight get lost (downstream of altered splice site)
10791081STRANDmight get lost (downstream of altered splice site)
10841089STRANDmight get lost (downstream of altered splice site)
10911100STRANDmight get lost (downstream of altered splice site)
11021115STRANDmight get lost (downstream of altered splice site)
11221128STRANDmight get lost (downstream of altered splice site)
11281222REPEATFilamin 10.might get lost (downstream of altered splice site)
11281511REGIONInteraction with FBLP1.might get lost (downstream of altered splice site)
11331135HELIXmight get lost (downstream of altered splice site)
11361140STRANDmight get lost (downstream of altered splice site)
11411143HELIXmight get lost (downstream of altered splice site)
11541160STRANDmight get lost (downstream of altered splice site)
11661172STRANDmight get lost (downstream of altered splice site)
11731175TURNmight get lost (downstream of altered splice site)
11791184STRANDmight get lost (downstream of altered splice site)
11881195STRANDmight get lost (downstream of altered splice site)
12001208STRANDmight get lost (downstream of altered splice site)
12171223STRANDmight get lost (downstream of altered splice site)
12231322REPEATFilamin 11.might get lost (downstream of altered splice site)
12321235STRANDmight get lost (downstream of altered splice site)
12361239HELIXmight get lost (downstream of altered splice site)
12491254STRANDmight get lost (downstream of altered splice site)
12561258STRANDmight get lost (downstream of altered splice site)
12731275STRANDmight get lost (downstream of altered splice site)
12811284STRANDmight get lost (downstream of altered splice site)
12861294STRANDmight get lost (downstream of altered splice site)
13001310STRANDmight get lost (downstream of altered splice site)
13161316MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13171321STRANDmight get lost (downstream of altered splice site)
13231415REPEATFilamin 12.might get lost (downstream of altered splice site)
13321335STRANDmight get lost (downstream of altered splice site)
13361339HELIXmight get lost (downstream of altered splice site)
13471352STRANDmight get lost (downstream of altered splice site)
13541356TURNmight get lost (downstream of altered splice site)
13611369STRANDmight get lost (downstream of altered splice site)
13741377STRANDmight get lost (downstream of altered splice site)
13791381STRANDmight get lost (downstream of altered splice site)
13831387STRANDmight get lost (downstream of altered splice site)
13931401STRANDmight get lost (downstream of altered splice site)
14101416STRANDmight get lost (downstream of altered splice site)
14111411CONFLICTF -> L (in Ref. 7; CAE46040).might get lost (downstream of altered splice site)
14161511REPEATFilamin 13.might get lost (downstream of altered splice site)
14251428STRANDmight get lost (downstream of altered splice site)
14291431TURNmight get lost (downstream of altered splice site)
14331433MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14411446STRANDmight get lost (downstream of altered splice site)
14481450TURNmight get lost (downstream of altered splice site)
14551460STRANDmight get lost (downstream of altered splice site)
14621464STRANDmight get lost (downstream of altered splice site)
14751483STRANDmight get lost (downstream of altered splice site)
14891501STRANDmight get lost (downstream of altered splice site)
15051505MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15061512STRANDmight get lost (downstream of altered splice site)
15121608REPEATFilamin 14.might get lost (downstream of altered splice site)
15171519HELIXmight get lost (downstream of altered splice site)
15201524STRANDmight get lost (downstream of altered splice site)
15251527HELIXmight get lost (downstream of altered splice site)
15301530MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15381546STRANDmight get lost (downstream of altered splice site)
15571557MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
15601560CONFLICTE -> G (in Ref. 7; CAE46040).might get lost (downstream of altered splice site)
15661570STRANDmight get lost (downstream of altered splice site)
15731580STRANDmight get lost (downstream of altered splice site)
15861590STRANDmight get lost (downstream of altered splice site)
15931596STRANDmight get lost (downstream of altered splice site)
16021602MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16031609STRANDmight get lost (downstream of altered splice site)
16091704REPEATFilamin 15.might get lost (downstream of altered splice site)
16181621STRANDmight get lost (downstream of altered splice site)
16221624HELIXmight get lost (downstream of altered splice site)
16251639STRANDmight get lost (downstream of altered splice site)
16411643STRANDmight get lost (downstream of altered splice site)
16481653STRANDmight get lost (downstream of altered splice site)
16631666STRANDmight get lost (downstream of altered splice site)
16721677STRANDmight get lost (downstream of altered splice site)
16821692STRANDmight get lost (downstream of altered splice site)
16841684MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
16991705STRANDmight get lost (downstream of altered splice site)
17051728REGIONHinge 1 (By similarity).might get lost (downstream of altered splice site)
17291813REPEATFilamin 16.might get lost (downstream of altered splice site)
17481750STRANDmight get lost (downstream of altered splice site)
17591765STRANDmight get lost (downstream of altered splice site)
17751778STRANDmight get lost (downstream of altered splice site)
17801782STRANDmight get lost (downstream of altered splice site)
17841787STRANDmight get lost (downstream of altered splice site)
17921804STRANDmight get lost (downstream of altered splice site)
18111816STRANDmight get lost (downstream of altered splice site)
18161908REPEATFilamin 17.might get lost (downstream of altered splice site)
18251828STRANDmight get lost (downstream of altered splice site)
18291832HELIXmight get lost (downstream of altered splice site)
18331835STRANDmight get lost (downstream of altered splice site)
18401845STRANDmight get lost (downstream of altered splice site)
18541862STRANDmight get lost (downstream of altered splice site)
18622148REGIONInteraction with the cytoplasmic tail of GP1BA.might get lost (downstream of altered splice site)
18721881STRANDmight get lost (downstream of altered splice site)
18881898STRANDmight get lost (downstream of altered splice site)
19031909STRANDmight get lost (downstream of altered splice site)
19191994REPEATFilamin 18.might get lost (downstream of altered splice site)
19241927STRANDmight get lost (downstream of altered splice site)
19411943STRANDmight get lost (downstream of altered splice site)
19521957STRANDmight get lost (downstream of altered splice site)
19531953CONFLICTL -> F (in Ref. 4; AAF97046).might get lost (downstream of altered splice site)
19581960TURNmight get lost (downstream of altered splice site)
19611966STRANDmight get lost (downstream of altered splice site)
19721977STRANDmight get lost (downstream of altered splice site)
19791984STRANDmight get lost (downstream of altered splice site)
19891994STRANDmight get lost (downstream of altered splice site)
19971999STRANDmight get lost (downstream of altered splice site)
19972089REPEATFilamin 19.might get lost (downstream of altered splice site)
20022004HELIXmight get lost (downstream of altered splice site)
20062006CONFLICTK -> R (in Ref. 2; AAC33845).might get lost (downstream of altered splice site)
20062010STRANDmight get lost (downstream of altered splice site)
20112013TURNmight get lost (downstream of altered splice site)
20142016STRANDmight get lost (downstream of altered splice site)
20212026STRANDmight get lost (downstream of altered splice site)
20282030TURNmight get lost (downstream of altered splice site)
20352043STRANDmight get lost (downstream of altered splice site)
20572061STRANDmight get lost (downstream of altered splice site)
20602225REGIONInteraction with FLNA 1.might get lost (downstream of altered splice site)
20672077STRANDmight get lost (downstream of altered splice site)
20832083MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
20842090STRANDmight get lost (downstream of altered splice site)
20912185REPEATFilamin 20.might get lost (downstream of altered splice site)
20992099CONFLICTI -> S (in Ref. 7; CAE46040).might get lost (downstream of altered splice site)
21072107MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
21112113STRANDmight get lost (downstream of altered splice site)
21182120STRANDmight get lost (downstream of altered splice site)
21262128HELIXmight get lost (downstream of altered splice site)
21302134STRANDmight get lost (downstream of altered splice site)
21302602REGIONInteraction with INPPL1.might get lost (downstream of altered splice site)
21402142STRANDmight get lost (downstream of altered splice site)
21442147STRANDmight get lost (downstream of altered splice site)
21492157STRANDmight get lost (downstream of altered splice site)
21642175STRANDmight get lost (downstream of altered splice site)
21702170CONFLICTK -> N (in Ref. 4; AAF97046).might get lost (downstream of altered splice site)
21702170MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
21802185STRANDmight get lost (downstream of altered splice site)
21882280REPEATFilamin 21.might get lost (downstream of altered splice site)
21932195HELIXmight get lost (downstream of altered splice site)
22012203TURNmight get lost (downstream of altered splice site)
22062208STRANDmight get lost (downstream of altered splice site)
22102214STRANDmight get lost (downstream of altered splice site)
22192221STRANDmight get lost (downstream of altered splice site)
22262234STRANDmight get lost (downstream of altered splice site)
22362240STRANDmight get lost (downstream of altered splice site)
22502256STRANDmight get lost (downstream of altered splice site)
22582266STRANDmight get lost (downstream of altered splice site)
22752281STRANDmight get lost (downstream of altered splice site)
22822375REPEATFilamin 22.might get lost (downstream of altered splice site)
22882294STRANDmight get lost (downstream of altered splice site)
22932293CONFLICTM -> V (in Ref. 4; AAF97046 and 7; CAE46040).might get lost (downstream of altered splice site)
23062314STRANDmight get lost (downstream of altered splice site)
23202324STRANDmight get lost (downstream of altered splice site)
23302332STRANDmight get lost (downstream of altered splice site)
23342337STRANDmight get lost (downstream of altered splice site)
23402347STRANDmight get lost (downstream of altered splice site)
23522365STRANDmight get lost (downstream of altered splice site)
23542354CONFLICTV -> A (in Ref. 11; CAB70818).might get lost (downstream of altered splice site)
23692369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23702375STRANDmight get lost (downstream of altered splice site)
23792471REPEATFilamin 23.might get lost (downstream of altered splice site)
23842386TURNmight get lost (downstream of altered splice site)
23882392STRANDmight get lost (downstream of altered splice site)
23932395TURNmight get lost (downstream of altered splice site)
24032408STRANDmight get lost (downstream of altered splice site)
24102412TURNmight get lost (downstream of altered splice site)
24172425STRANDmight get lost (downstream of altered splice site)
24302433STRANDmight get lost (downstream of altered splice site)
24352442STRANDmight get lost (downstream of altered splice site)
24482459STRANDmight get lost (downstream of altered splice site)
24662473STRANDmight get lost (downstream of altered splice site)
24682468CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15).might get lost (downstream of altered splice site)
24682468MUTAGENK->R: Cytoplasmic localization.might get lost (downstream of altered splice site)
24722506REGIONHinge 2 (By similarity).might get lost (downstream of altered splice site)
24722602REGIONSelf-association site, tail (By similarity).might get lost (downstream of altered splice site)
24782478MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24812481MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24872487CONFLICTS -> C (in Ref. 13; AAA35505).might get lost (downstream of altered splice site)
25022502MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
25072601REPEATFilamin 24.might get lost (downstream of altered splice site)
25072602REGIONInteraction with FLNA 2.might get lost (downstream of altered splice site)
25122514TURNmight get lost (downstream of altered splice site)
25162519STRANDmight get lost (downstream of altered splice site)
25202523HELIXmight get lost (downstream of altered splice site)
25312536STRANDmight get lost (downstream of altered splice site)
25382540TURNmight get lost (downstream of altered splice site)
25452547STRANDmight get lost (downstream of altered splice site)
25572565STRANDmight get lost (downstream of altered splice site)
25682574STRANDmight get lost (downstream of altered splice site)
25712571CONFLICTV -> A (in Ref. 11; CAB70818).might get lost (downstream of altered splice site)
25762576MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
25792583STRANDmight get lost (downstream of altered splice site)
25852591STRANDmight get lost (downstream of altered splice site)
25962601STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7776 / 7776
position (AA) of stopcodon in wt / mu AA sequence 2592 / 2592
position of stopcodon in wt / mu cDNA 7941 / 7941
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 166 / 166
chromosome 3
strand 1
last intron/exon boundary 7754
theoretical NMD boundary in CDS 7538
length of CDS 7776
coding sequence (CDS) position 700
cDNA position
(for ins/del: last normal base / first normal base)		 865
gDNA position
(for ins/del: last normal base / first normal base)		 73290
chromosomal position
(for ins/del: last normal base / first normal base)		 58067416
original gDNA sequence snippet AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC
altered gDNA sequence snippet AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC
original cDNA sequence snippet AGCACTCAGTTATGACTTACCTGTCCCAGTTCCCCAAAGCC
altered cDNA sequence snippet AGCACTCAGTTATGACTTACGTGTCCCAGTTCCCCAAAGCC
wildtype AA sequence MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVTEE AYVPVSDMNG LGFKPFDLVI
PFAVRKGEIT GEVHMPSGKT ATPEIVDNKD GTVTVRYAPT EVGLHEMHIK YMGSHIPESP
LQFYVNYPNS GSVSAYGPGL VYGVANKTAT FTIVTEDAGE GGLDLAIEGP SKAEISCIDN
KDGTCTVTYL PTLPGDYSIL VKYNDKHIPG SPFTAKITDD SRRCSQVKLG SAADFLLDIS
ETDLSSLTAS IKAPSGRDEP CLLKRLPNNH IGISFIPREV GEHLVSIKKN GNHVANSPVS
IMVVQSEIGD ARRAKVYGRG LSEGRTFEMS DFIVDTRDAG YGGISLAVEG PSKVDIQTED
LEDGTCKVSY FPTVPGVYIV STKFADEHVP GSPFTVKISG EGRVKESITR TSRAPSVATV
GSICDLNLKI PEINSSDMSA HVTSPSGRVT EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY
RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP GLERGEAGVP AEFSIWTREA GAGGLSIAVE
GPSKAEITFD DHKNGSCGVS YIAQEPGNYE VSIKFNDEHI PESPYLVPVI APSDDARRLT
VMSLQESGLK VNQPASFAIR LNGAKGKIDA KVHSPSGAVE ECHVSELEPD KYAVRFIPHE
NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA GNPALVSAYG TGLEGGTTGI QSEFFINTTR
AGPGTLSVTI EGPSKVKMDC QETPEGYKVM YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV
TGQRLVSPGS ANETSSILVE SVTRSSTETC YSAIPKASSD ASKVTSKGAG LSKAFVGQKS
SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM KHVGNQQYNV TYVVKERGDY VLAVKWGEEH
IPGSPFHVTV P*
mutated AA sequence MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYVSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG LLAVQITDQE
GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP LSPYRIRATQ TGDASKCLAT
GPGIASTVKT GEEVGFVVDA KTAGKGKVTC TVLTPDGTEA EADVIENEDG TYDIFYTAAK
PGTYVIYVRF GGVDIPNSPF TVMATDGEVT AVEEAPVTEE AYVPVSDMNG LGFKPFDLVI
PFAVRKGEIT GEVHMPSGKT ATPEIVDNKD GTVTVRYAPT EVGLHEMHIK YMGSHIPESP
LQFYVNYPNS GSVSAYGPGL VYGVANKTAT FTIVTEDAGE GGLDLAIEGP SKAEISCIDN
KDGTCTVTYL PTLPGDYSIL VKYNDKHIPG SPFTAKITDD SRRCSQVKLG SAADFLLDIS
ETDLSSLTAS IKAPSGRDEP CLLKRLPNNH IGISFIPREV GEHLVSIKKN GNHVANSPVS
IMVVQSEIGD ARRAKVYGRG LSEGRTFEMS DFIVDTRDAG YGGISLAVEG PSKVDIQTED
LEDGTCKVSY FPTVPGVYIV STKFADEHVP GSPFTVKISG EGRVKESITR TSRAPSVATV
GSICDLNLKI PEINSSDMSA HVTSPSGRVT EAEIVPMGKN SHCVRFVPQE MGVHTVSVKY
RGQHVTGSPF QFTVGPLGEG GAHKVRAGGP GLERGEAGVP AEFSIWTREA GAGGLSIAVE
GPSKAEITFD DHKNGSCGVS YIAQEPGNYE VSIKFNDEHI PESPYLVPVI APSDDARRLT
VMSLQESGLK VNQPASFAIR LNGAKGKIDA KVHSPSGAVE ECHVSELEPD KYAVRFIPHE
NGVHTIDVKF NGSHVVGSPF KVRVGEPGQA GNPALVSAYG TGLEGGTTGI QSEFFINTTR
AGPGTLSVTI EGPSKVKMDC QETPEGYKVM YTPMAPGNYL ISVKYGGPNH IVGSPFKAKV
TGQRLVSPGS ANETSSILVE SVTRSSTETC YSAIPKASSD ASKVTSKGAG LSKAFVGQKS
SFLVDCSKAG SNMLLIGVHG PTTPCEEVSM KHVGNQQYNV TYVVKERGDY VLAVKWGEEH
IPGSPFHVTV P*
speed 0.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project